MTHFR gene polymorphisms and DNA methylation in idiopathic spontaneous preterm birthDević Pavlić, Sanja (Avtor) Šverko, Roberta (Avtor) Barišić, Anita (Avtor) Mladenić, Tea (Avtor) Vraneković, Jadranka (Avtor) Stanković, Aleksandra (Avtor) Peterlin, Ana Marija (Avtor) Peterlin, Borut (Avtor) Ostojić, Saša (Avtor) Pereza, Nina (Avtor) DNA methylationMTHFRmethylenetetrahydrofolate reductasegenetic polymorphismidiopathic spontaneous preterm birthpreterm birthBackground and Objectives: Preterm birth (PTB) is a complex condition with various contributing factors, including genetic and epigenetic influences such as DNA methylation. Methylenetetrahydrofolate reductase (MTHFR) plays a critical role in DNA methylation and the remethylation of homocysteine. This study aimed to investigate the association between maternal MTHFR C677T and A1298C polymorphisms, LINE-1 DNA methylation levels, and the risk of idiopathic spontaneous preterm birth (SPTB) in Caucasian women from Croatia and Slovenia. Materials and Methods: A total of 50 women with SPTB (<34 weeks of gestation) and 50 control women were included in the study. MTHFR polymorphisms were analyzed using polymerase chain reaction restriction fragment length polymorphism (PCR-RFLP), and LINE-1 DNA methylation levels were quantified using the MethyLight method. Results: The study found no significant differences in MTHFR C677T and A1298C polymorphisms’ genotype or allele frequencies between women with SPTB and controls. Additionally, no statistical significance of LINE-1 DNA methylation was found between the genotypes of the MTHFR polymorphisms analyzed. Conclusions: The study suggests no conclusive association between MTHFR C677T and A1298C polymorphisms, LINE-1 DNA methylation, and SPTB in Croatian and Slovenian women. Considering prior evidence connecting MTHFR polymorphisms, hyperhomocysteinemia, and PTB, the lack of homocysteine measurements and unassessed impact of folate or vitamin B supplementation limit the conclusions.20242026-03-10 09:10:51Neznano28090sl